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ATM and chronic lymphocytic leukemia: mutations, and not only deletions, matter.共济失调毛细血管扩张症突变基因（ATM）与慢性淋巴细胞白血病：突变，而非仅缺失，至关重要。
Haematologica. 2012 Jan;97(1):5-8. doi: 10.3324/haematol.2011.057109.
2
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.ATM 种系杂合性在慢性淋巴细胞白血病的起始中不起作用，但通过丧失剩余的 ATM 等位基因影响疾病的快速进展。
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3
[Gene atm and chronic lymphocytic leukemia - review].[共济失调毛细血管扩张症突变基因与慢性淋巴细胞白血病——综述]
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ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.ATM 基因突变在慢性淋巴细胞白血病患者中诱导独特的基因表达谱，并可预测疾病进展。
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Biallelic ATM inactivation significantly reduces survival in patients treated on the United Kingdom Leukemia Research Fund Chronic Lymphocytic Leukemia 4 trial.英国白血病研究基金慢性淋巴细胞白血病 4 期临床试验中，双等位基因 ATM 失活显著降低了患者的生存率。
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No evidence for DNA methylation of the ATM promoter CpG island in chronic lymphocytic leukemia.慢性淋巴细胞白血病中ATM启动子CpG岛不存在DNA甲基化的证据。
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Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study.慢性淋巴细胞白血病患者中突变的共济失调毛细血管扩张症基因的变异对无进展生存期和总生存期无明显影响：一项癌症和白血病组 B 的研究。
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A novel functional assay using etoposide plus nutlin-3a detects and distinguishes between ATM and TP53 mutations in CLL.一种使用依托泊苷加Nutlin-3a的新型功能检测方法可检测并区分慢性淋巴细胞白血病（CLL）中的ATM和TP53突变。
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Prognostic Factors in the Era of Targeted Therapies in CLL.CLL 靶向治疗时代的预后因素。
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High fluorescence in situ hybridization percentage of deletion 11q in patients with chronic lymphocytic leukemia is an independent predictor of adverse outcome.慢性淋巴细胞白血病患者中11号染色体长臂缺失的荧光原位杂交高百分比是不良预后的独立预测指标。
Am J Hematol. 2015 Jun;90(6):471-7. doi: 10.1002/ajh.23978. Epub 2015 Mar 30.
8
Molecular pathogenesis of CLL and its evolution.慢性淋巴细胞白血病的分子发病机制及其演变。
Int J Hematol. 2015 Mar;101(3):219-28. doi: 10.1007/s12185-015-1733-0. Epub 2015 Jan 29.
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Molecular basis of chronic lymphocytic leukemia diagnosis and prognosis.慢性淋巴细胞白血病诊断与预后的分子基础
Cell Oncol (Dordr). 2015 Apr;38(2):93-109. doi: 10.1007/s13402-014-0215-3. Epub 2015 Jan 7.
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Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive analysis in large cohorts.ATM-Chk2表达在散发性乳腺癌中的临床病理意义：大型队列的综合分析
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本文引用的文献

1
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia.NOTCH1 突变是慢性淋巴细胞白血病患者生存的独立预测因子。
Blood. 2012 Jan 12;119(2):521-9. doi: 10.1182/blood-2011-09-379966. Epub 2011 Nov 10.
2
Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness.SF3B1 剪接因子在慢性淋巴细胞白血病中的突变：与进展和氟达拉滨耐药性相关。
Blood. 2011 Dec 22;118(26):6904-8. doi: 10.1182/blood-2011-08-373159. Epub 2011 Oct 28.
3
Analysis of NOTCH1 mutations in monoclonal B-cell lymphocytosis.单克隆B淋巴细胞增多症中NOTCH1突变的分析
Haematologica. 2012 Jan;97(1):153-4. doi: 10.3324/haematol.2011.053090. Epub 2011 Oct 11.
4
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.ATM 基因突变在慢性淋巴细胞白血病患者中诱导独特的基因表达谱，并可预测疾病进展。
Haematologica. 2012 Jan;97(1):47-55. doi: 10.3324/haematol.2011.049270. Epub 2011 Oct 11.
5
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.ATM 种系杂合性在慢性淋巴细胞白血病的起始中不起作用，但通过丧失剩余的 ATM 等位基因影响疾病的快速进展。
Haematologica. 2012 Jan;97(1):142-6. doi: 10.3324/haematol.2011.048827. Epub 2011 Sep 20.
6
Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation.慢性淋巴细胞白血病编码基因组分析：NOTCH1 突变激活的作用。
J Exp Med. 2011 Jul 4;208(7):1389-401. doi: 10.1084/jem.20110921. Epub 2011 Jun 13.
7
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.全基因组测序鉴定慢性淋巴细胞白血病中的反复突变。
Nature. 2011 Jun 5;475(7354):101-5. doi: 10.1038/nature10113.
8
The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation.里希特综合征的遗传学揭示了疾病异质性，并预测了转化后的生存情况。
Blood. 2011 Mar 24;117(12):3391-401. doi: 10.1182/blood-2010-09-302174. Epub 2011 Jan 25.
9
Understanding and managing ultra high-risk chronic lymphocytic leukemia.理解和管理超高危慢性淋巴细胞白血病。
Hematology Am Soc Hematol Educ Program. 2010;2010:481-8. doi: 10.1182/asheducation-2010.1.481.
10
Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged.癌症中替代前体 mRNA 剪接调控：脱节的通路和程序。
Genes Dev. 2010 Nov 1;24(21):2343-64. doi: 10.1101/gad.1973010.

ATM and chronic lymphocytic leukemia: mutations, and not only deletions, matter.

作者信息

Rossi Davide, Gaidano Gianluca

出版信息

Haematologica. 2012 Jan;97(1):5-8. doi: 10.3324/haematol.2011.057109.

DOI:10.3324/haematol.2011.057109
PMID:22210328
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3248924/
Abstract
摘要